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Synonyms |
Description |
Articles |
Phenotypes |
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MYH-9 related disease
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A blood platelet disease that has_material_basis_i.. [+]A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract.
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Muenke Syndrome
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FGFR3-related craniosynostosis
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A craniosyntosis characterized by autosomal domina.. [+]A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.
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methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
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methylmalonic acidemia due to methylmalonyl-CoA mu..
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methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency; methylmalonic aciduria mut type; vitamin B12-unresponsive methylmalonic aciduria
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A methylmalonic acidemia characterized by accumula.. [+]A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3.
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methylmalonic acidemia due to transcobalamin receptor defect
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methylmalonic acidemia, TCblR type; methylmalonic ..
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methylmalonic acidemia, TCblR type; methylmalonic aciduria due to transcobalamin receptor defect; methylmalonic acidemia, TCbIR type; methylmalonic acidemia, TCb1R type
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A methylmalonic acidemia characterized by autosoma.. [+]A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene.
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methylmalonic acidemia cblA type
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methylmalonic aciduria cblA type; methylmalonic ac..
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methylmalonic aciduria cblA type; methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type; methylmalonic aciduria cb1A type
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A methylmalonic acidemia characterized by autosoma.. [+]A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31.
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methylmalonic acidemia cblB type
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methylmalonic aciduria, vitamin B12-responsive, du..
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methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type; methylmalonic aciduria cblB type; methylmalonic aciduria cb1B type
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A methylmalonic acidemia characterized by autosoma.. [+]A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24.
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multiple types of congenital heart defects 6
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DTGA3; dextro-looped transposition of the great ar..
[+]DTGA3; dextro-looped transposition of the great arteries 3
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A congenital heart disease that is characterized b.. [+]A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that\nhas_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13.
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1 articles
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microvillus inclusion disease
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MVD; congenital microvillus atrophy; Davidson dise..
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MVD; congenital microvillus atrophy; Davidson disease; diarrhea 2 with microvillus atrophy; intractable diarrhea of infancy; congenital familial protracted diarrhea with enterocyte brush-border abnormalities
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A congenital diarrhea characterized by onset of in.. [+]A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21.
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MEHMO syndrome
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MRXS20; MRXS25; mental retardation, epileptic seiz..
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MRXS25; MRXS20; mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; syndromic X-linked mental retardation 25; syndromic X-linked mental retardation 20; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
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A syndromic X-linked intellectual disability chara.. [+]A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gene on chromosome Xp22.
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Miles-Carpenter syndrome
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mental retardation, X-linked, with congenital cont..
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mental retardation, X-linked, with congenital contractures and low fingertip arches; MCS; MRXS4; mental retardation, X-linked, syndromic 4; X-linked intellectual disability, Miles-Carpenter type
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A syndromic X-linked intellectual disability chara.. [+]A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22.
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microphthalmia with limb anomalies
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MLA; OAS; ophthalmoacromelic syndrome; Waardenburg..
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MLA; OAS; ophthalmoacromelic syndrome; Waardenburg anophthalmia syndrome; anophthalmia-syndactyly syndrome
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A syndrome that is characterized by autosomal rece.. [+]A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24.
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mal de Meleda
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Meleda disease; keratosis palmoplantaris transgred..
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Meleda disease; keratosis palmoplantaris transgrediens of Siemens; transgrediens palmoplantar keratoderma of Siemens
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A palmoplantar keratosis characterized by autosoma.. [+]A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24.
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macrocephaly-autism syndrome
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macrocephaly-intellectual disability-autism syndro..
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macrocephaly-intellectual disability-autism syndrome
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A syndrome characterized by macrocephaly, facial p.. [+]A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23.
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2 articles
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myoclonic dystonia 34
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A dystonia characterized by childhood-onset dyston.. [+]A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22.
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myeloid neoplasm
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myeloma
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A bone marrow cancer that is formed of any one of .. [+]A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.
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3 articles
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Meckel syndrome 1
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MKS1; Meckel-Gruber syndrome, type 1
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A Meckel syndrome that has_material_basis_in an au.. [+]A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22.
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Meckel syndrome 2
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MKS2; Meckel-Gruber syndrome, type 2
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A Meckel syndrome that has_material_basis_in an au.. [+]A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2.
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Meckel syndrome 3
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MKS3; Meckel-Gruber syndrome, type 3
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A Meckel syndrome that has_material_basis_in an au.. [+]A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1.
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Meckel syndrome 4
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MKS4; Meckel-Gruber syndrome, type 4
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A Meckel syndrome that has_material_basis_in an au.. [+]A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32.
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Meckel syndrome 5
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MKS5; Meckel-Gruber syndrome, type 5
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A Meckel syndrome that has_material_basis_in an au.. [+]A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2.
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